ArticlePharmacogenomics2019
CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements.
Article in Pharmacogenomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Low-frequency variants at thePharmacogenomics · 2019Trial
- Leveraging Machine Learning to Predict Warfarin Sensitivity in the Puerto Rican Population: A Pharmacogenomic Approach.International journal of environmental research and public health · 2026Article
- Paraoxonase-1 as a Cardiovascular Biomarker in Caribbean Hispanic Patients Treated with Clopidogrel: Abundance and Functionality.International journal of molecular sciences · 2024Article
- Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2019Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Warfarin continues to be the mainstay therapy for preventing thrombus formation. Although pharmacogenetic algorithms have shown higher predictability of the optimal warfarin dose and lower occurrence of bleeding episodes, they often do not include ethno-specific genetic variants relevant to non-Europeans. This case report describes a rare missense variant at exon 9 of CYP2C9 (rs202201137; c.1370A>G transition; p.Asn457Ser) found in a Puerto Rican patient with low warfarin dose requirements (3 mg/day). The haplotype characterized by two amino acid changes, Asn457Ser and Arg144Cys (rs1799853; c.430C>T), has been designated CYP2C9*61 by the Pharmacogene Variation Consortium. According to prediction scores assessed with the Combined Annotation Dependent Depletion tool, CYP2C9*61 (p.Asn457Ser) was classified as nondeleterious, therefore its impact on CYP2C9 enzymatic activity cannot be postulated.
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Registered trials
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